INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
An X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies.
Loeys-Dietz syndrome +
Marfan Lipodystrophy Syndrome
Marfan Syndrome Type 2
Marfan Syndrome, Autosomal Recessive
Marfanoid Habitus with Microcephaly and Glomerulonephritis